Cardiomyopathy and carnitine deficiency (Q36725320)

15 August 2017

Cardiomyopathy and carnitine deficiency (English)

1 reference

15 August 2017

1 reference

Nicola Longo

5

0 references

Luisa Mestroni

object named as

Luisa Mestroni

3

0 references

author name string

Cristina Amat di San Filippo

1

1 reference

PMCID

2430214

15 August 2017

Matthew R G Taylor

2

1 reference

PMCID

2430214

15 August 2017

Lorenzo D Botto

4

1 reference

15 August 2017

11 March 2008

1 reference

Molecular Genetics and Metabolism

15 August 2017

1 reference

15 August 2017

94

1 reference

15 August 2017

2

1 reference

15 August 2017

162-166

1 reference

Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430214

Disorders of carnitine transport and the carnitine cycle

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430214

A missense mutation in the OCTN2 gene associated with residual carnitine transport activity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430214

Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430214

Primary and secondary alterations of neonatal carnitine metabolism.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430214

Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430214

Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430214

cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430214

Animal model of systemic carnitine deficiency: analysis in C3H-H-2 degrees strain of mouse associated with juvenile visceral steatosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430214

Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430214

Pharmacological rescue of carnitine transport in primary carnitine deficiency.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430214

Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430214

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430214

A heterozygote phenotype is present in the jvs +/- mutant mouse livers

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430214

Age-associated cardiomyopathy in heterozygous carrier mice of a pathological mutation of carnitine transporter gene, OCTN2.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430214

Phenotype and genotype variation in primary carnitine deficiency

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430214

Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430214

Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430214

Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency

5 September 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.02.002

Pressure overload-induced cardiomyopathy in heterozygous carrier mice of carnitine transporter gene mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.02.002

Familial Dilated Cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.02.002

Abnormal sodium stimulation of carnitine transport in primary carnitine deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.02.002

Expanded newborn screening identifies maternal primary carnitine deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.02.002

10.1016/J.YMGME.2008.02.002

7 January 2021

Identifiers

DOI

1 reference

15 August 2017

1 reference

15 August 2017

1 reference

PMCID

2430214